Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

Purpose: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. Methods: Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. Exon 4 of the transforming growth factorinduced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing. We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme. Using this strategy, we analyzed the mutation in six affected and three healthy family members. Results: Three generations of family members were positively diagnosed with lattice corneal dystrophy. Six participants demonstrated LCD1 in both eyes, most of whom were symmetric. Age at onset of symptoms was variable (3–42 years old). Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation. Visual acuity varied from 1.0 to 0.13. Two patients, ages 69 and 44 years old, demonstrated a degree of severity “Bad” according to best-corrected vision and corneal commitment. The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF–induced protein. Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members. Conclusions: The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family. This is the first report of a molecular analysis of LCD type I in Chilean patients. The early onset affected persons in the fourth generation raises the possibility of anticipation.This research was supported by grant OAIC 203/06, Hospital Clínico de la Universidad de Chile José Joaquín Aguirre, Santiago de Chile, Chile

User Experience Design für Sicherheitstechnik: Ansatz und Methodik bei Dräger Safety

Bei der Produktentwicklung von B2B-Produkten erhält das Nutzererleben (User Experience – UX) eine zunehmende Bedeutung (Lu & Roto 2015, Wölfel et al. 2016, Platz et al. 2018, Zeiner et al. 2018, Wölfel & Krzywinski 2019a, b). Dies gilt auch für die Angebote des Unternehmensbereichs Sicherheitstechnik von Dräger. Das Unternehmen entwickelt u. a. Produkte für die Feuerwehr, die chemische Industrie oder den Bergbau (Abbildungen 1 und 2). Das Ziel sind sicher, effizient und zufriedenstellend zu bedienende Produkte, Software und Services. Im Rahmen der kontinuierlichen Nutzer- und Kundenevaluation stellt sich eine gute Usability und User Experience als immer wichtiger werdende Anforderungen heraus, welche es zufriedenstellend zu erfüllen gilt. Sie haben zunehmend Einfluss auf die Kaufentscheidung von Anwendern und Kunden in der Sicherheitstechnik. Die Produkte heben sich nicht mehr allein durch ihre Funktionalität vom Wettbewerb ab. Um den nutzer- und kundenorientierten Anforderungen über den gesamten Produktlebenszyklus in Zukunft noch besser gerecht zu werden, wurden die aktuellen Prozesse analysiert und der Produktdesignprozess hin zu einem nutzerzentrierten UX-Design-Prozess reformiert. Dabei ist die Integration von UX Research und Design in die Produktentwicklung einer der wichtigsten Bestandteile

The moderating effect of cortisol and dehydroepiandrosterone on the relation between sleep and depression or burnout

For poor sleep quality (SQ) as well as major depressive disorder (MDD) and burnout, a dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis has been identified. Although poor SQ is often reported as an early symptom of MDD or burnout, it is not clear whether HPA axis-related hormones can influence the association between SQ and MDD or burnout. This manuscript addresses this question by examining HPA axis-related hormones as potential moderators influencing the association between SQ and MDD or burnout. In the fourth annual examination wave of the Dresden Burnout Study, we measured general SQ (including sleep duration and efficiency), depressive and burnout symptoms, and obtained hair samples for quantification of long-term integrated steroid concentrations (cortisol [hC], cortisone [hCn], dehydroepiandrosterone [hDHEA]) from 462 participants (67% female). Data on SQ, depressive and burnout symptoms were available from 342 participants from the preceding examination wave (average time span between examinations 13.2 months). Cross-sectional analyses showed that the negative association between sleep duration and depressive symptoms was buffered by higher levels of hC, and hCn, whereas the negative association between sleep duration and burnout symptoms was buffered by higher levels of hDHEA. The negative association between sleep efficiency and burnout symptoms was intensified by higher levels of hC and hC/hCn ratio and the negative association between general SQ and burnout symptoms was intensified by higher levels of hC/hCn ratio. With regard to longitudinal data, a significant interaction effect between sleep duration and hC/hCn ratio could be detected for burnout symptoms. Our results suggest opposed moderation effects of hair glucocorticoids on the association between SQ and depressive or burnout symptoms. This points toward opposed glucocorticoid receptor functioning in depression and burnout. To fully elucidate the negative consequences of poor SQ on MDD and burnout, the complex underlying mechanisms of action including HPA axis-related hormones need to be investigated in MDD and burnout separately

Scripted and unscripted aspects of creative work with knowledge

Advances in scripting theory and advances in support for student-driven knowledge construction call for a reconsideration of long-standing issues of guidance, control, and agency. This symposium undertakes a fresh analysis based on the relations between two widely adopted approaches that may be poles apart but arguably viewed as variations within a common applied epistemological framework. The two approaches are scripted collaboration and Knowledge Building. Rather than focusing on similarities and differences, the symposium will address deeper problems such as reconciling external supports of all kinds with the self-organizing character of knowledge construction and integrating such supports into classrooms viewed as knowledge-creating communities. The centerpiece of the symposium is a panel discussion that includes experts who provide different theoretical viewpoints. In its synthesis the symposium will capture and make sense of what is strongest in the two approaches and provide a broad conceptual basis for next-generation initiatives

Application of Discrete Differential Forms to Spherically Symmetric Systems in General Relativity

In this article we describe applications of Discrete Differential Forms in computational GR. In particular we consider the initial value problem in vacuum space-times that are spherically symmetric. The motivation to investigate this method is mainly its manifest coordinate independence. Three numerical schemes are introduced, the results of which are compared with the corresponding analytic solutions. The error of two schemes converges quadratically to zero. For one scheme the errors depend strongly on the initial data.Comment: 22 pages, 6 figures, accepted by Class. Quant. Gra

Hidden politics of power and governmentality in transitional justice and peacebuilding:The problem of ‘bringing the local back in’

This paper examines ‘the local’ in peacebuilding by examining how ‘local’ transitional justice projects can become spaces of power inequalities. The paper argues that focusing on how ‘the local’ contests or interacts with ‘the international’ in peacebuilding and post-conflict contexts obscures contestations and power relations amongst different local actors, and how inequalities and power asymmetries can be entrenched and reproduced through internationally funded local projects. The paper argues that externally funded projects aimed at emancipating ‘locals’ entrench inequalities and create local elites that become complicit in governing the conduct and participation of other less empowered ‘locals’. The paper thus proposes that specific local actors—often those in charge of externally funded peacebuilding projects—should also be conceptualised as governing agents: able to discipline and regulate other local actors’ voices and their agency, and thus (re)construct ideas about what ‘the local’ is, or is not

The mere-exposure effect in human-machine interaction and its influence on user experience

Der Umgang mit interaktiven Schnittstellen technischer Geräte gehört heute zum Alltag vieler Menschen. Diese Schnittstellen werden durch die zunehmende Funktionalität der Geräte komplexer. Beispielsweise sind die heutigen Mobiltelefone, sogenannte Smartphones, mit ihrer unterstützenden und umfangreichen Funktionalität nicht mehr aus dem Leben vieler Menschen wegzudenken. Dabei ist es nicht nur der effiziente Umgang mit der Technik, der u. a. für die Kaufentscheidung eine Bedeutung hat. Vielmehr sind es vielfältigste Phänomene, die unser Verhalten beeinflussen können. Eines der umfangreichsten und vielschichtigsten Konstrukte im Zusammenhang mit der Mensch-Technik-Interaktion stellt das Nutzererleben dar. Es ist als hochkomplexes, dynamisches und zeitsensitives Phänomen bekannt (Roto et al., 2011). Da sich bei der Betrachtung des Nutzererlebens unterschiedlichste Disziplinen überschneiden, entwickelten sich im Laufe der Zeit diverse Modelle zu dessen Beschreibung und Definition (u. a. Thüring & Mahlke, 2007; Karapanos, Zimmerman, Forlizzi & Martens, 2009; ISO 9241-210, 2010). Im Rahmen des konzeptionellen Modells ContinUE (engl.: Continuous User Experience) von Pohlmeyer (2011) wird dabei zwischen verschiedenen Phasen und dem damit verbundenen Erleben mit einem System/Produkt unterschieden: dem antizipierten (Pre-use-Phase), dem tatsächlichen (Use-Phase), dem reflektierten (Post-use-Phase), dem retrospektiven (Past-use-Phase) und dem prospektiven (Re-use-Phase) Erleben mit einem ähnlichen System/Produkt. Jede dieser Phasen unterliegt verschiedensten Einflussfaktoren und führt sowohl zu unmittelbaren, kurzfristigen als auch langfristigen Effekten hinsichtlich des Erlebens und des (zukünftigen) Verhaltens. Inwiefern die Expositionshäufigkeit einen Einfluss auf das Erleben in den einzelnen Phasen haben kann, wurde im Rahmen der vorliegenden Untersuchung fokussiert. Dabei konnten Effekte der reinen Darbietung (engl.: mere exposure) für die Bewertung sowohl der instrumentellen als auch der nichtinstrumentellen Produktqualitäten festgestellt werden. Diese Effekte unterliegen jedoch weiteren Einflussfaktoren, die u. a. die Stimulusart und -darbietung sowie die Bewertungsdimension betreffen. Zudem konnte ein wiederholt auftretender hedonischer Halo-Effekt in der Past-use-Phase beobachtet werden, wie er bisher nur aus frühen Phasen des Nutzererlebenszyklus bekannt ist. Es zeigt sich demnach wiederholt der komplexe und dynamische Charakter des Nutzererlebens.Dealing with interactive interfaces of technical or even digital devices forms part of everyday life for most people. Over time, interfaces are becoming more complex due to the increased functionality of these devices. For example, the most common type of phone is called a “smart phone” and is an indispensable instrument for many people. It combines numerous features and therefore fulfills many needs of the owner for personal and business purposes. It is not only the efficient use of a product that leads to a buying decision, even more diverse phenomena are influencing our behavior when it comes to purchasing. One of the most complex and dynamic factors within the human-machine interaction is the user experience (Roto et al., 2011). Due to the differing views of the user experience within the areas of product development (marketing, design e.g.) and user research (cognitive and business psychology e.g.), multiple theories and models have been derived to explain the nature of this specific experience (i. a. Thüring & Mahlke, 2007; Karapanos, Zimmerman, Forlizzi & Martens, 2009; ISO 9241-210, 2010). The conceptual model ContinUE (Continuous User Experience) by Pohlmeyer (2011) describes different phases and their user experience: the anticipated experience (pre-use phase), the real experience (use phase), the reflective experience (post-use phase), the retrospective experience (past-use phase), and the prospective experience (re-use phase) anticipated with a similar product/system. All of these phases are subject to different influencing factors that can lead to short- and/or long-term effects and change the user’s (future) behaviour. How mere-exposure can influence these phases and therefore the long-term user experience is subject of the present research. Results show that a mere-exposure effect for the evaluation of instrumental and non-instrumental product qualities leads to a specific user experience. But the mere-exposure effect is influenced by multiple factors e.g. kinds of stimuli, ways of stimuli presentation and dimensions of evaluation (liking e.g.). Additionally, the occurrence of the hedonic halo-effect, known from early use phases, could be observed again within the past-use phase. In conclusion, this study supports and highlights the definition of user experience as a complex and dynamic phenomenon within the human-machine interaction